CAMBRIDGE, MA – July 31
, a clinical laboratory serving the DNA-based diagnostic testing needs of children’s hospitals, announced today that it is launching a novel series of clinical assays that combine the flexibility and comprehensiveness of whole exome sequencing with the rigor of deep and focused analysis of variants associated with specific clinical presentations.
The first of these tests, the ClariFocus Exome for Pediatric Neurology
is a comprehensive clinical whole exome assay that is tailored to address diagnosis of genetically based conditions in pediatric neurology. Patients with neurological symptoms suspected of having a genetic basis, for which traditional single gene or small panel testing is insufficient, will benefit from the ClariFocus Exome for Pediatric Neurology
. The test captures a whole exome and reports all clinically relevant variants pertaining to a wide range of pediatric neurologic conditions including seizures, muscle weakness and developmental delay. The size of the interpretive aperture is updated regularly to keep up with the rapid pace of discovery in pediatric neurology, and currently encompasses over 600 genes.
Compared to standard clinical whole exome analyses, ClariFocus Exome for Pediatric Neurology allows for more rapid and focused delivery of results back to ordering providers. Because of its specific analysis on the areas of the exome that are phenotypically-relevant, the assay avoids challenges posed by incidental findings in areas not related to phenotype.
“Genetic testing in pediatric neurology is increasing and it can be quite time-consuming and expensive. Traditional gene-by-gene testing, and even the application of small panels can be inefficient, given the complexity of many neurologic disorders,” explained Patrice Milos, Chief Executive Officer of Claritas, “This offering is part of an overall ClariFocus Exome approach that uses a whole exome preparation, but concentrates on a defined set of areas related to specific phenotypes, providing the most efficient way to get the right information rapidly. Patients and families are eager for a diagnosis, and we want to get them information as quickly as possible to help them determine the best options for the next phase of their care.”
ClariFocus Exome for Pediatric Neurology
joins the Claritas menu
of over 100 tests, including Sanger assays, next generation sequencing panels and the ClariView Array
. Additional ClariFocus Exome
tests are in development and include assays analyzing all genes tightly associated with Mendelian disorders of childhood and a comprehensive assay examining all areas clinically relevant to autism, developmental delay and intellectual disability.
About Claritas Genomics
Claritas Genomics is a clinical genetic diagnostic testing company that combines the clinical expertise of the world’s best pediatric specialists with next generation sequencing technology to inform and improve patient care. Claritas offers a full range of services that take the guesswork out of selecting molecular tests and support clinicians as they navigate the increasingly complex landscape of genetic diagnostics. Claritas’s interpretive services are based on the most up to date and reliable findings and the Claritas reports are designed to clearly communicate complex genetic information to guide medical treatment. Originally Boston Children’s Hospital’s clinical molecular testing laboratory, Claritas was launched as an independent laboratory in February 2013.